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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

DiGeorge syndrome critical region gene 2

IDD, COL9A3
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: Insulin, CAN, NOD, HAD, AGE
Papers on IDD
The imbalance between TIMP3 and matrix-degrading enzymes plays an important role in intervertebral disc degeneration.
New
Zhao et al., Shanghai, China. In Biochem Biophys Res Commun, Feb 2016
It is well-known that one of the most important features of intervertebral disc degeneration (IDD) is the extracellular matrix (ECM) degradation.
Association Between VDR FokI Polymorphism and Intervertebral Disc Degeneration.
New
Li et al., Shanghai, China. In Genomics Proteomics Bioinformatics, Feb 2016
UNASSIGNED: Intervertebral disc degeneration (IDD) is strongly associated with genetic predisposition and environmental susceptibility.
Adenovirus-mediated GDF-5 promotes the extracellular matrix expression in degenerative nucleus pulposus cells.
New
Feng et al., Nanchong, China. In J Zhejiang Univ Sci B, Jan 2016
OBJECTIVE: To construct a recombinant adenovirus vector-carrying human growth and differentiation factor-5 (GDF-5) gene, investigate the biological effects of adenovirus-mediated GDF-5 (Ad-GDF-5) on extracellular matrix (ECM) expression in human degenerative disc nucleus pulposus (NP) cells, and explore a candidate gene therapy method for intervertebral disc degeneration (IDD).
Delivery of epilepsy care to adults with intellectual and developmental disabilities.
Review
New
Wirrell et al., Maba, China. In Neurology, Nov 2015
Epilepsy is common in people with intellectual and developmental disabilities (IDD).
MicroRNAs: New players in intervertebral disc degeneration.
Review
New
Jiang et al., Hengyang, China. In Clin Chim Acta, Nov 2015
Chronic low back pain is generally attributed to intervertebral disc (IVD) degeneration (IDD), which is closely associated with apoptosis, extracellular matrix (ECM) disruption, cell proliferation and inflammatory response.
Interleukin-1β in intervertebral disk degeneration.
Review
New
Wang et al., Hengyang, China. In Clin Chim Acta, Nov 2015
Intervertebral disk degeneration (IDD) is the most common diagnosis in patients with low back pain, a main cause of musculoskeletal disability in the world.
MMPs and ADAMTSs in intervertebral disc degeneration.
Review
New
Zhang et al., Hengyang, China. In Clin Chim Acta, Sep 2015
Intervertebral disc degeneration (IDD) is the most common diagnosis in patients with low back pain, a leading cause of musculoskeletal disability worldwide.
Interferon-stimulated genes-essential antiviral effectors implicated in resistance to Theiler's virus-induced demyelinating disease.
Gerhauser et al., Hannover, Germany. In J Neuroinflammation, 2014
Nevertheless, detailed investigations of the type I IFN pathway during TMEV-induced demyelinating disease (TMEV-IDD) are lacking.
Novel targeted bladder drug-delivery systems: a review.
Review
Cardozo et al., London, United Kingdom. In Res Rep Urol, 2014
Continuous urine filling and subsequent washout hinder intravesical drug delivery (IDD).
Expression profiles of MMP-1 and TIMP-1 in lumbar intervertebral disc degeneration.
Ji et al., Zoucheng, China. In Genet Mol Res, 2014
Lumbar intervertebral disc degeneration (IDD) is a common clinical pathology and has become a focus for research in recent years.
Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates.
GeneRIF
Danielsson et al., Uppsala, Sweden. In J Proteomics, 2012
DGCR2, GPR44 and SerpinB10, found in beta cells, were negative in all other cell types within pancreas and exposed epitopes at the cell surface
Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
GeneRIF
Eyre et al., Seattle, United States. In Spine (phila Pa 1976), 2011
Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease.
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
GeneRIF
Song et al., Seoul, South Korea. In Int J Mol Med, 2010
We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%).
Intense dose-dense sequential chemotherapy with epirubicin, paclitaxel, and cyclophosphamide compared with conventionally scheduled chemotherapy in high-risk primary breast cancer: mature results of an AGO phase III study.
Impact
Untch et al., Frankfurt am Main, Germany. In J Clin Oncol, 2010
We compared intense dose-dense (IDD) adjuvant chemotherapy with conventionally scheduled adjuvant chemotherapy in patients with high-risk primary breast cancer.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
GeneRIF
Briggs et al., Manchester, United Kingdom. In Am J Med Genet A, 2010
This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.
Inhibition of platelet GPIb alpha and promotion of melanoma metastasis.
GeneRIF
Schön et al., Würzburg, Germany. In J Invest Dermatol, 2010
GPIb alpha contributes to the control of tumor metastasis, in addition to its role in hemostasis
In vivo RNA interference demonstrates a role for Nramp1 in modifying susceptibility to type 1 diabetes.
Impact
Wicker et al., Cambridge, United States. In Nat Genet, 2006
Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified.
Epitope spreading initiates in the CNS in two mouse models of multiple sclerosis.
Impact
Miller et al., United States. In Nat Med, 2005
Chronic progression of two T cell-mediated central nervous system (CNS) demyelinating models of multiple sclerosis, relapsing EAE (R-EAE) and Theiler's murine encephalomyelitis virus-induced demyelinating disease (TMEV-IDD) is dependent on the activation of T cells to endogenous myelin epitopes (epitope spreading).
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Impact
Briggs et al., Manchester, United Kingdom. In Nat Genet, 2001
Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs.
Identification of a novel common genetic risk factor for lumbar disk disease.
Impact
Ala-Kokko et al., Oulu, Finland. In Jama, 2001
MAIN OUTCOME MEASURES: Frequencies of sequence variations covering the entire coding sequences and exon boundaries of the collagen IX genes, COL9A1, COL9A2, and COL9A3, which code for the alpha1, alpha2, and alpha3 chains of the protein, detected by conformation-sensitive gel electrophoresis and confirmed by sequencing, compared between individuals with and without LDD.
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